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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-108150109-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=108150109&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 108150109,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000379028.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3716G>A",
"hgvs_p": "p.Arg1239Gln",
"transcript": "NM_001037132.4",
"protein_id": "NP_001032209.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3716,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 4241,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": "ENST00000379028.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3716G>A",
"hgvs_p": "p.Arg1239Gln",
"transcript": "ENST00000379028.8",
"protein_id": "ENSP00000368314.3",
"transcript_support_level": 5,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3716,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 4241,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": "NM_001037132.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3380G>A",
"hgvs_p": "p.Arg1127Gln",
"transcript": "ENST00000379024.8",
"protein_id": "ENSP00000368310.4",
"transcript_support_level": 1,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3380,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 3790,
"cdna_end": null,
"cdna_length": 5782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3353G>A",
"hgvs_p": "p.Arg1118Gln",
"transcript": "ENST00000351718.8",
"protein_id": "ENSP00000325269.6",
"transcript_support_level": 1,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1183,
"cds_start": 3353,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 3781,
"cdna_end": null,
"cdna_length": 6228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "n.349G>A",
"hgvs_p": null,
"transcript": "ENST00000522550.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3725G>A",
"hgvs_p": "p.Arg1242Gln",
"transcript": "NM_001371156.1",
"protein_id": "NP_001358085.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1307,
"cds_start": 3725,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 4250,
"cdna_end": null,
"cdna_length": 6710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3716G>A",
"hgvs_p": "p.Arg1239Gln",
"transcript": "NM_001371131.1",
"protein_id": "NP_001358060.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3716,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 4322,
"cdna_end": null,
"cdna_length": 6782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3680G>A",
"hgvs_p": "p.Arg1227Gln",
"transcript": "NM_001371169.1",
"protein_id": "NP_001358098.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 4205,
"cdna_end": null,
"cdna_length": 6665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3668G>A",
"hgvs_p": "p.Arg1223Gln",
"transcript": "NM_001371119.1",
"protein_id": "NP_001358048.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3668,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 4050,
"cdna_end": null,
"cdna_length": 6510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Arg1220Gln",
"transcript": "NM_001371124.1",
"protein_id": "NP_001358053.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 4041,
"cdna_end": null,
"cdna_length": 6501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Arg1220Gln",
"transcript": "NM_001371126.1",
"protein_id": "NP_001358055.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 4338,
"cdna_end": null,
"cdna_length": 6798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Arg1220Gln",
"transcript": "NM_001371172.1",
"protein_id": "NP_001358101.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 4184,
"cdna_end": null,
"cdna_length": 6644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3623G>A",
"hgvs_p": "p.Arg1208Gln",
"transcript": "NM_001371146.1",
"protein_id": "NP_001358075.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3623,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 4148,
"cdna_end": null,
"cdna_length": 6608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3554G>A",
"hgvs_p": "p.Arg1185Gln",
"transcript": "NM_001371138.1",
"protein_id": "NP_001358067.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3554,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 4079,
"cdna_end": null,
"cdna_length": 6539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3533G>A",
"hgvs_p": "p.Arg1178Gln",
"transcript": "NM_001371158.1",
"protein_id": "NP_001358087.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3533,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 4058,
"cdna_end": null,
"cdna_length": 6518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3506G>A",
"hgvs_p": "p.Arg1169Gln",
"transcript": "NM_001371145.1",
"protein_id": "NP_001358074.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3506,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 4031,
"cdna_end": null,
"cdna_length": 6491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3479G>A",
"hgvs_p": "p.Arg1160Gln",
"transcript": "NM_001371136.1",
"protein_id": "NP_001358065.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3479,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 4004,
"cdna_end": null,
"cdna_length": 6464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3470G>A",
"hgvs_p": "p.Arg1157Gln",
"transcript": "NM_001371140.1",
"protein_id": "NP_001358069.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1222,
"cds_start": 3470,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 3995,
"cdna_end": null,
"cdna_length": 6455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3446G>A",
"hgvs_p": "p.Arg1149Gln",
"transcript": "NM_001371123.1",
"protein_id": "NP_001358052.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3446,
"cds_end": null,
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"cdna_start": 3828,
"cdna_end": null,
"cdna_length": 6288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3446G>A",
"hgvs_p": "p.Arg1149Gln",
"transcript": "NM_001371149.1",
"protein_id": "NP_001358078.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3446,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3971,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3437G>A",
"hgvs_p": "p.Arg1146Gln",
"transcript": "NM_001193582.2",
"protein_id": "NP_001180511.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3437,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 3962,
"cdna_end": null,
"cdna_length": 6422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3437G>A",
"hgvs_p": "p.Arg1146Gln",
"transcript": "NM_001371128.1",
"protein_id": "NP_001358057.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3437,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 4080,
"cdna_end": null,
"cdna_length": 6540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
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}
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}